The urofacial syndrome is characterized by functional obstructive uropathy asso­ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. [1] These patients are at risk of developing renal failure. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. [2]

Herein, we report the first case of this syn­drome from Jordan and the third from the Arab countries. [3],[4],[5]

Case Report

A 12-year-old-male, who presented at the age of one year with urinary tract infection (UTI), was found to have bilateral hydrouretero-nephrosis secondary to bilateral grade-4/5 vesicoureteral reflux (VUR). Since infancy, the patient had a peculiar smile, similar to a paternal aunt, who did not have any urological anomalies. The parents were not consangui­neous. Physical examination revealed normal blood pressure with no neurological abnor­malities. The patient had intact perineal and peri-anal sensation, with normal motor func­tion and deep tendon reflexes. However, when­ever he tried to laugh or smile, it looked like he was crying [Figure 1]a and b.

Figure 1a: Clinical photograph of the patient before smiling.Figure 1b: Clinical photograph of the patient while smiling.

Magnetic resonance imaging of the lumbo-sacral spine was normal; urodynamic study revealed a neurogenic bladder. He was diag­nosed as having non-neurogenic neurogenic bladder (NNNB). A renal ultrasound revealed severe right-sided hydronephrosis with thin­ning of the cortex.

At the age of 10 years, the patient's hemoglo­bin was 11.5 g/dL, serum creatinine was 0.77 mg/dL, and the estimated glomerular filtration rate (eGFR) was 190 mL/1.73 m [2] /24 hours.

Micturating cystourethrogram showed a tra-beculated bladder, with numerous diverticulae, and grade-5 right VUR; urodynamics showed a low compliance bladder with prolonged and intermittent voiding phase, associated with detrussor hyper-reflexia. The patient could not tolerate a volume of even 110 mL. Postvoid residual urine was 340 mL. A technetium-99m-mercaptoacetyltriglycine ( 99m Tc-MAG 3 ) renal scan showed markedly reduced parenchymal uptake in the right kidney with no evidence of excretory phase, suggesting an almost non-functioning right kidney. Split renal function showed 1.5% function on the right side and 98.5% function on the left side.

The patient had recurrent UTIs (usually pyelonephritis) with bilateral flank/suprapubic pain, urgency, and day and night incontinence. He was maintained on nitrofurantoin prophy­laxis, oxybutinin, and desmopressin. The pa­tient had habitual constipation. At the age of 12 years, he had acute scrotal pain. A gangre­nous cyst of morgani was resected.

Discussion

The purpose of this article was to report the rare syndrome of neurogenic bladder associated with an abnormal smile. [1] The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower uri­nary tract malformations. [2] When neurogenic bladder occurs in the ab­sence of an overt neurological deficit, it is la­beled as occult neuropathic bladder or NNNB. However, the occurrence of NNNB in infants is rare. [6],[7]

While lower urological abnormalities are common in children, the urofacial or Ochoa syndrome is rare. The symptoms of lower urinary tract dysfunction (LUTD) include in­continence, recurrent UTIs, constipation, and VUR. [8],[9]

Ochoa or urofacial syndrome consists of a characteristic facial grimace (when smiling or laughing, patient looks like he/she is crying) associated with obstructive uropathy in the absence of mechanical obstruction, or apparent neurological abnormalities. The laughing and crying centers and the origin of the facial nerves lie in close proximity to the pontine centers for micturition/urine storage in the reti-cular formation in the brain stem. [1],[10],[11]

The urofacial syndrome is associated with high-grade VUR, which leads to upper urinary tract damage and renal failure. One-third of patients have constipation. [2] Our patient had symptoms of LUTD, associated with NNNB, renal damage, constipation, and an abnormal smile. The above-mentioned findings fit with the diagnosis of urofacial syndrome. [1] Two cases of the urofacial syndrome were reported from Kuwait [3],[4] and one from Saudi Arabia. [5] To our knowledge, our case is the first from Jordan.

The urofacial syndrome is inherited in an autosomal recessive manner. It is due to homo-zygous or compound heterozygous mutation with loss of function of the Heparanase 2 (HPSE2) gene located on chromosome 10q23-q24. [12] Some family members of patients with the urofacial syndrome have the characteristic facial grimace, with or without the associated obstructive uropathy. In our patient, there was a positive family history of the facial grimace without mention of any overt urological anomaly.

The urofacial syndrome was previously in­cluded under NNNB or Hinmann syndrome. [13] Whereas Hinmann syndrome was attributed to behavioral problems, emerging evidence points to an inherited defect in the central nervous system and urinary bladder communications. [14]

The importance of diagnosing the urofacial syndrome lies in the fact that besides the facial expression abnormality, it sheds light on the inheritance of urological anomalies such as the NNNB. Early diagnosis of the urofacial syn­drome is important to avoid upper urinary tract damage and renal failure.